POC1A

POC1 centriolar protein A

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000164087
UniProt:: Q8NBT0
OMIM:: 614783
Synonyms:: DKFZP434C245, WDR51A

Cilia effects upon perturbation of POC1A

Cilia number / % ciliated:: Decreased cilia number
Loss-of-function effect:: Shorter cilia

Ciliogenesis screen results (2 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.17) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:: decreased fasting circulating glucose level, increased urine microalbumin level, preweaning lethality, incomplete penetrance

Ciliopathy associations

SOFT Syndrome

References: PMID:22840364, PMID:38245004

Subcellular localization

basal body, centrosome

References: PMID:26336158, PMID:23015594, PMID:22840364

Functional category

Ciliary assembly/disassembly

Function

Stable component of centrioles that and plays a role in their formation and maintenance. Mutations cause ciliogenesis defects and impared mitosis, as well as primordial dwarfism (26336158, 23015594, 22840364).

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